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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 15533

FusionGeneSummary for GSK3B_CARM1

check button Fusion gene summary
Fusion gene informationFusion gene name: GSK3B_CARM1
Fusion gene ID: 15533
HgeneTgene
Gene symbol

GSK3B

CARM1

Gene ID

2932

10498

Gene nameglycogen synthase kinase 3 betacoactivator associated arginine methyltransferase 1
Synonyms-PRMT4
Cytomap

3q13.33

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionglycogen synthase kinase-3 betaGSK-3 betaGSK3beta isoformserine/threonine-protein kinase GSK3Bhistone-arginine methyltransferase CARM1protein arginine N-methyltransferase 4
Modification date2018052720180527
UniProtAcc

P49841

Q86X55

Ensembl transtripts involved in fusion geneENST00000264235, ENST00000316626, 
ENST00000473886, 
ENST00000327064, 
ENST00000344150, 
Fusion gene scores* DoF score24 X 16 X 8=30723 X 4 X 9=108
# samples 269
** MAII scorelog2(26/3072*10)=-3.5625946876927
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/108*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GSK3B [Title/Abstract] AND CARM1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneGSK3B

GO:0005977

glycogen metabolic process

8638126

HgeneGSK3B

GO:0006468

protein phosphorylation

11035810|16315267|20937854

HgeneGSK3B

GO:0006983

ER overload response

14744935

HgeneGSK3B

GO:0018105

peptidyl-serine phosphorylation

8638126|11104755|11955436|14744935|17139249

HgeneGSK3B

GO:0018107

peptidyl-threonine phosphorylation

11955436|17139249|25897075

HgeneGSK3B

GO:0031175

neuron projection development

19830702

HgeneGSK3B

GO:0031334

positive regulation of protein complex assembly

8638126

HgeneGSK3B

GO:0032091

negative regulation of protein binding

16890161

HgeneGSK3B

GO:0035556

intracellular signal transduction

14749367

HgeneGSK3B

GO:0043066

negative regulation of apoptotic process

14744935

HgeneGSK3B

GO:0046777

protein autophosphorylation

23184662

HgeneGSK3B

GO:0046827

positive regulation of protein export from nucleus

14744935

HgeneGSK3B

GO:0060070

canonical Wnt signaling pathway

18787224

HgeneGSK3B

GO:1901215

negative regulation of neuron death

19830702

HgeneGSK3B

GO:1901216

positive regulation of neuron death

18508033

TgeneCARM1

GO:0016571

histone methylation

19405910


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BE883384GSK3Bchr3

119813137

-CARM1chr19

10982488

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000264235ENST00000327064GSK3Bchr3

119813137

-CARM1chr19

10982488

+
intron-3CDSENST00000264235ENST00000344150GSK3Bchr3

119813137

-CARM1chr19

10982488

+
intron-3CDSENST00000316626ENST00000327064GSK3Bchr3

119813137

-CARM1chr19

10982488

+
intron-3CDSENST00000316626ENST00000344150GSK3Bchr3

119813137

-CARM1chr19

10982488

+
intron-3CDSENST00000473886ENST00000327064GSK3Bchr3

119813137

-CARM1chr19

10982488

+
intron-3CDSENST00000473886ENST00000344150GSK3Bchr3

119813137

-CARM1chr19

10982488

+

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FusionProtFeatures for GSK3B_CARM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GSK3B

P49841

CARM1

Q86X55

Constitutively active protein kinase that acts as anegative regulator in the hormonal control of glucose homeostasis,Wnt signaling and regulation of transcription factors andmicrotubules, by phosphorylating and inactivating glycogensynthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1,DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requiresprimed phosphorylation of the majority of its substrates. Inskeletal muscle, contributes to insulin regulation of glycogensynthesis by phosphorylating and inhibiting GYS1 activity andhence glycogen synthesis. May also mediate the development ofinsulin resistance by regulating activation of transcriptionfactors. Regulates protein synthesis by controlling the activityof initiation factor 2B (EIF2BE/EIF2B5) in the same manner asglycogen synthase. In Wnt signaling, GSK3B forms a multimericcomplex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylatesthe N-terminus of CTNNB1 leading to its degradation mediated byubiquitin/proteasomes. Phosphorylates JUN at sites proximal to itsDNA-binding domain, thereby reducing its affinity for DNA.Phosphorylates NFATC1/NFATC on conserved serine residues promotingNFATC1/NFATC nuclear export, shutting off NFATC1/NFATC generegulation, and thereby opposing the action of calcineurin.Phosphorylates MAPT/TAU on 'Thr-548', decreasing significantlyMAPT/TAU ability to bind and stabilize microtubules. MAPT/TAU isthe principal component of neurofibrillary tangles in Alzheimerdisease. Plays an important role in ERBB2-dependent stabilizationof microtubules at the cell cortex. Phosphorylates MACF1,inhibiting its binding to microtubules which is critical for itsrole in bulge stem cell migration and skin wound repair. Probablyregulates NF-kappa-B (NFKB1) at the transcriptional level and isrequired for the NF-kappa-B-mediated anti-apoptotic response toTNF-alpha (TNF/TNFA). Negatively regulates replication inpancreatic beta-cells, resulting in apoptosis, loss of beta-cellsand diabetes. Through phosphorylation of the anti-apoptoticprotein MCL1, may control cell apoptosis in response to growthfactors deprivation. Phosphorylates MUC1 in breast cancer cells,decreasing the interaction of MUC1 with CTNNB1/beta-catenin. Isnecessary for the establishment of neuronal polarity and axonoutgrowth. Phosphorylates MARK2, leading to inhibit its activity.Phosphorylates SIK1 at 'Thr-182', leading to sustain its activity.Phosphorylates ZC3HAV1 which enhances its antiviral activity.Phosphorylates SNAI1, leading to its BTRC-triggered ubiquitinationand proteasomal degradation. Phosphorylates SFPQ at 'Thr-687' uponT-cell activation. Phosphorylates NR1D1 st 'Ser-55' and 'Ser-59'and stabilizes it by protecting it from proteasomal degradation.Regulates the circadian clock via phosphorylation of the majorclock components including ARNTL/BMAL1, CLOCK and PER2.Phosphorylates CLOCK AT 'Ser-427' and targets it for proteasomaldegradation. Phosphorylates ARNTL/BMAL1 at 'Ser-17' and 'Ser-21'and primes it for ubiquitination and proteasomal degradation.Phosphorylates OGT at 'Ser-3' or 'Ser-4' which positivelyregulates its activity. Phosphorylates MYCN in neuroblastoma cellswhich may promote its degradation (PubMed:24391509).{ECO:0000269|PubMed:11430833, ECO:0000269|PubMed:12554650,ECO:0000269|PubMed:14690523, ECO:0000269|PubMed:15448698,ECO:0000269|PubMed:15647282, ECO:0000269|PubMed:16484495,ECO:0000269|PubMed:18348280, ECO:0000269|PubMed:1846781,ECO:0000269|PubMed:19946213, ECO:0000269|PubMed:20932480,ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:22514281,ECO:0000269|PubMed:24391509, ECO:0000269|PubMed:8397507,ECO:0000269|PubMed:9072970, ECO:0000269|PubMed:9819408}. Methylates (mono- and asymmetric dimethylation) theguanidino nitrogens of arginyl residues in several proteinsinvolved in DNA packaging, transcription regulation, pre-mRNAsplicing, and mRNA stability. Recruited to promoters upon geneactivation together with histone acetyltransferases fromEP300/P300 and p160 families, methylates histone H3 at 'Arg-17'(H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a),leading to activate transcription via chromatin remodeling. Duringnuclear hormone receptor activation and TCF7L2/TCF4 activation,acts synergically with EP300/P300 and either one of the p160histone acetyltransferases NCOA1/SRC1, NCOA2/GRIP1 and NCOA3/ACTRor CTNNB1/beta-catenin to activate transcription. During myogenictranscriptional activation, acts together with NCOA3/ACTR as acoactivator for MEF2C. During monocyte inflammatory stimulation,acts together with EP300/P300 as a coactivator for NF-kappa-B.Acts as coactivator for PPARG, promotes adipocyte differentiationand the accumulation of brown fat tissue. Plays a role in theregulation of pre-mRNA alternative splicing by methylation ofsplicing factors. Also seems to be involved in p53/TP53transcriptional activation. Methylates EP300/P300, both at 'Arg-2142', which may loosen its interaction with NCOA2/GRIP1, and at'Arg-580' and 'Arg-604' in the KIX domain, which impairs itsinteraction with CREB and inhibits CREB-dependent transcriptionalactivation. Also methylates arginine residues in RNA-bindingproteins PABPC1, ELAVL1 and ELAV4, which may affect their mRNA-stabilizing properties and the half-life of their target mRNAs.{ECO:0000269|PubMed:16497732, ECO:0000269|PubMed:19405910}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for GSK3B_CARM1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for GSK3B_CARM1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for GSK3B_CARM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGSK3BP49841DB01356LithiumGlycogen synthase kinase-3 betasmall moleculeapproved

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RelatedDiseases for GSK3B_CARM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGSK3BC0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneGSK3BC0011581Depressive disorder5CTD_human;PSYGENET
HgeneGSK3BC1269683Major Depressive Disorder5PSYGENET
HgeneGSK3BC0011570Mental Depression3PSYGENET
HgeneGSK3BC0002395Alzheimer's Disease2CTD_human
HgeneGSK3BC0033578Prostatic Neoplasms2CTD_human
HgeneGSK3BC0525045Mood Disorders2PSYGENET
HgeneGSK3BC0018800Cardiomegaly1CTD_human
HgeneGSK3BC0018801Heart failure1CTD_human
HgeneGSK3BC0020538Hypertensive disease1CTD_human
HgeneGSK3BC0026846Muscular Atrophy1CTD_human
HgeneGSK3BC0027051Myocardial Infarction1CTD_human
HgeneGSK3BC0031154Peritonitis1CTD_human
HgeneGSK3BC0036341Schizophrenia1CTD_human
HgeneGSK3BC0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
HgeneGSK3BC0993582Arthritis, Experimental1CTD_human
HgeneGSK3BC1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
HgeneGSK3BC2609414Acute kidney injury1CTD_human
TgeneCARM1C0033860Psoriasis1CTD_human